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81.
S. Savas S. Eraslan S. Kantarci B. Karaman D. Acarsoz T. Tükel O. Cogulu F. Ozkinay S. Basaran K. Aydınlı M. Yuksel-Apak B. Kirdar 《黑龙江环境通报》2002,22(8):703-709
Childhood-onset spinal muscular atrophy (SMA) is one of the most common neurodegenerative genetic disorders. SMN1 is the SMA-determining gene deleted or mutated in the majority of SMA cases. There is no effective cure or treatment for this disease yet. Thus, the availability of prenatal testing is important. Here we report prenatal prediction for 68 fetuses in 63 Turkish SMA families using direct deletion analysis of the SMN1 gene by restriction digestion. The genotype of the index case was known in 40 families (Group A) but unknown in the remaining 23 families (Group B). A total of ten fetuses were predicted to be affected. Eight of these fetuses were derived from Group A and two of these fetuses were from Group B families. Two fetuses from the same family in Group A had the SMNhyb1 gene in addition to homozygous deletion of the NAIP gene. One fetus from Group A was homozygously deleted for only exon 8 of the SMN2 gene, and further analysis showed the presence of both the SMN1 and SMNhyb1 genes but not the SMN2 gene. In addition, one carrier with a homozygous deletion of only exon 8 of the SMN1 gene was detected to have a SMNhyb2 gene, which was also found in the fetus. To our knowledge, these are the first prenatal cases with SMNhyb genes. Follow-up studies demonstrated that the prenatal predictions and the phenotype of the fetuses correlated well in 33 type I pregnancies demonstrating that a careful molecular analysis of the SMN genes is very useful in predicting the phenotype of the fetus in families at risk for SMA. Copyright © 2002 John Wiley & Sons, Ltd. 相似文献
82.
P.P. Povinec H. Bokuniewicz W.C. Burnett J. Cable M. Charette J.-F. Comanducci E.A. Kontar W.S. Moore J.A. Oberdorfer J. de Oliveira R. Peterson T. Stieglitz M. Taniguchi 《Journal of environmental radioactivity》2008,99(10):1596
Results of groundwater and seawater analyses for radioactive (3H, 222Rn, 223Ra, 224Ra, 226Ra, and 228Ra) and stable (D and 18O) isotopes are presented together with in situ spatial mapping and time series 222Rn measurements in seawater, direct seepage measurements using manual and automated seepage meters, pore water investigations using different tracers and piezometric techniques, and geoelectric surveys probing the coast. This study represents first time that such a new complex arsenal of radioactive and non-radioactive tracer techniques and geophysical methods have been used for simultaneous submarine groundwater discharge (SGD) investigations. Large fluctuations of SGD fluxes were observed at sites situated only a few meters apart (from 0 cm d−1 to 360 cm d−1; the unit represents cm3/cm2/day), as well as during a few hours (from 0 cm d−1 to 110 cm d−1), strongly depending on the tidal fluctuations. The average SGD flux estimated from continuous 222Rn measurements is 17 ± 10 cm d−1. Integrated coastal SGD flux estimated for the Ubatuba coast using radium isotopes is about 7 × 103 m3 d−1 per km of the coast. The isotopic composition (δD and δ18O) of submarine waters was characterised by significant variability and heavy isotope enrichment, indicating that the contribution of groundwater in submarine waters varied from a small percentage to 20%. However, this contribution with increasing offshore distance became negligible. Automated seepage meters and time series measurements of 222Rn activity concentration showed a negative correlation between the SGD rates and tidal stage. This is likely caused by sea level changes as tidal effects induce variations of hydraulic gradients. The geoelectric probing and piezometric measurements contributed to better understanding of the spatial distribution of different water masses present along the coast. The radium isotope data showed scattered distributions with offshore distance, which imply that seawater in a complex coast with many small bays and islands was influenced by local currents and groundwater/seawater mixing. This has also been confirmed by a relatively short residence time of 1–2 weeks for water within 25 km offshore, as obtained by short-lived radium isotopes. The irregular distribution of SGD seen at Ubatuba is a characteristic of fractured rock aquifers, fed by coastal groundwater and recirculated seawater with small admixtures of groundwater, which is of potential environmental concern and has implications on the management of freshwater resources in the region. 相似文献
83.
84.
Environmental factors have long been shown to influence species distributions, with range limits often resulting from environmental
stressors exceeding organism tolerances. However, these abiotic factors may differentially affect species with multiple life-history
stages. Between September 2004 and January 2006, the roles of temperature and nutrient availability in explaining the southern
distributions of two understory kelps, Pterygophora californica and Eisenia arborea (Phaeophyceae, Laminariales), were investigated along the coast of California, USA and the Baja California Peninsula, Mexico,
by limiting either: (a) tissue nitrogen uptake and storage by adult sporophytes during periods of elevated temperature, and/or
(b) production of embryonic sporophytes by microscopic gametophytes. Results suggest that while adult sporophytes of both
species are tolerant of high temperatures and low nutrients, reproduction by their microscopic stages is not. Specifically,
while E. arborea produced embryonic sporophytes at both 12 and 18°C, temperatures commonly observed throughout the southern portion of its
range, P. californica produced sporophytes at 12 but not at 18°C. As a result, it appears that the southern distribution of P. californica, which ends in northern Baja California, Mexico, may be limited by temperature acting on its microscopic stages. In contrast,
the ability of E. arborea’s microscopic and adult stages to tolerate elevated temperatures allows it to persist in the warmer southern waters of Baja
California, as well as to the north along the California coast where both species co-occur. 相似文献
85.
Tone River supplies most of the water requirements of the Tokyo Metropolitan Area (TMA). Lowering of Tone flow and yearly
fluctuation, however, is causing water shortage along TMA nowadays. This study investigated the future water availability
scenarios under climatic changes. A state-of-the-art approach to utilize the output of several GCM has been demonstrated to
investigate the future water availability scenarios for TMA from the Tone River. An integrated modeling approach for water
balance considering several hydrological risk indices was adopted to quantify the future changes in this case. It is observed
that the future summer precipitation along the Tone basin is going to be increased considerably, while an almost constant
or decreasing trend is observed for winter season. Natural flow availability for winter or spring seasons thus can be crucial
under future scenarios. After reservoir routing, the hydrological risk indices estimated, however, were not found to be changed
significantly due to the presence of a robust reservoir system at the upstream. 相似文献
86.
87.
88.
E. A. Kleshcheva 《Russian Journal of Ecology》2007,38(2):94-100
A method for estimating the current state of plant communities based on the ecological amplitudes of constituent species is proposed. An original program, Fitoindikatsiya, has been developed to compute the indices of disturbance and homogeneity of plant communities from species ecological scale values. The current state of pine forests in the part of Novosibirsk oblast east of the Ob River has been analyzed; slightly, moderately, and severely disturbed zones have been distinguished. 相似文献
89.
Geochemical characteristics of surficial sediments in the Panangad region of Cochin estuary, the largest brackish-water humid ecosystem in the south-west coast of India, were analysed. Temporal variations in nutrient stoichiometry, seasonal characteristics of redox elements Fe and S, and the phosphorus geochemistry were employed for the purpose. The stoichiometric analysis pointed towards autochthonous origin of organic matter, possibility of nitrogen limitation, and allochthonous modification of redox conditions. Seasonal variations were not statistically significant for all the geochemical parameters, whereas significant spatial variations were observed with lower values at sandy stations, suggesting that the texture of the sediments is the main factor influencing the sediment geochemistry. Significant inter-relations between the geochemical parameters also suggest a common control mechanism. Based on these geochemical characteristics, the study region can be effectively categorized into two distinct zones, viz. (1) erosion and transportation and (2) deposition zones. 相似文献
90.